Mutagenetix > Incidental Mutations

Incidental Mutation 'R0006:Atad2b'

43665

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

041980-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4942030 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 210 (S210T)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045664]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: S210T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: S210T

Domain	Start	End	E-Value	Type
low complexity region	13	54	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	252	278	N/A	INTRINSIC
AAA	432	573	4.56e-20	SMART
SCOP:d1e32a2	771	912	3e-4	SMART
BROMO	958	1070	4.24e-20	SMART
low complexity region	1135	1144	N/A	INTRINSIC
low complexity region	1230	1253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219187

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,863,935		probably benign	Het
Aldh3a1	G	A	11: 61,217,101	V324M	probably damaging	Het
Als2cl	T	A	9: 110,894,618	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,602,898	F556L	probably damaging	Het
Aurka	A	G	2: 172,359,753		probably null	Het
Boc	C	T	16: 44,496,449	V444I	probably benign	Het
Ccdc109b	A	C	3: 129,933,765		probably benign	Het
Cfap61	G	A	2: 146,077,312	V655I	probably benign	Het
Chd8	A	G	14: 52,235,293	I351T	possibly damaging	Het
Chid1	T	A	7: 141,496,426		probably benign	Het
Cyp3a41a	T	A	5: 145,704,796	H288L	probably benign	Het
Dnase2b	T	A	3: 146,582,489	I284F	probably damaging	Het
Dock2	A	G	11: 34,312,453		probably benign	Het
Dst	C	T	1: 34,228,918	T5325I	probably benign	Het
Erbb3	A	G	10: 128,573,410		probably null	Het
Fam129c	A	G	8: 71,605,044		probably benign	Het
Fancl	A	G	11: 26,469,695	N316S	possibly damaging	Het
Farsa	G	T	8: 84,861,305		probably benign	Het
Fibcd1	T	G	2: 31,838,587	D86A	probably damaging	Het
Gab1	A	T	8: 80,769,730	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,388,601	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155	T150K	possibly damaging	Het
Gm340	A	G	19: 41,584,899	T698A	probably benign	Het
Gnb3	G	A	6: 124,835,804		probably benign	Het
Hephl1	T	A	9: 15,076,764	T683S	probably benign	Het
Hmcn1	G	A	1: 150,808,676	P381L	probably damaging	Het
Hspa8	T	G	9: 40,804,629	N544K	probably benign	Het
Hspg2	C	T	4: 137,519,931	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,135,100		probably benign	Het
Jazf1	A	G	6: 52,894,086		probably benign	Het
Kntc1	T	A	5: 123,789,138	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,964,569	Y460F	possibly damaging	Het
Lyrm7	T	A	11: 54,848,597	T76S	probably benign	Het
Map1b	C	T	13: 99,435,302	V304M	probably damaging	Het
Muc13	T	C	16: 33,803,148	S271P	probably damaging	Het
Myo16	A	G	8: 10,475,988	K843E	probably damaging	Het
Nav2	A	G	7: 49,453,230	E531G	possibly damaging	Het
Nup188	T	C	2: 30,322,023	V553A	probably benign	Het
Olfr1	A	G	11: 73,395,488	F178S	probably damaging	Het
Olfr1348	A	G	7: 6,501,611	I205T	possibly damaging	Het
Olfr376	A	G	11: 73,375,588	M283V	possibly damaging	Het
Olfr646	A	G	7: 104,106,320	I14V	probably benign	Het
Olfr877	T	A	9: 37,855,220	V134D	possibly damaging	Het
P4ha3	C	T	7: 100,318,948	R378*	probably null	Het
Rap1gds1	G	T	3: 138,983,871		probably null	Het
Rbfox1	T	A	16: 7,330,420	S244R	probably benign	Het
Rpp40	G	A	13: 35,896,735	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,909,148	C148R	probably damaging	Het
Skint5	T	C	4: 113,893,862		probably benign	Het
Sptbn1	A	G	11: 30,123,855	S1405P	probably damaging	Het
Tex35	T	C	1: 157,099,744	K154E	possibly damaging	Het
Thada	T	C	17: 84,226,040	N1661S	probably benign	Het
Tle4	A	G	19: 14,466,714		probably benign	Het
Tnxb	T	C	17: 34,682,292	S1027P	probably benign	Het
Tpm3	T	A	3: 90,087,661		probably benign	Het
Ubr4	T	C	4: 139,431,649	F2438L	probably benign	Het
Uggt2	A	T	14: 119,049,663	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,432,305	H205Q	probably damaging	Het
Wbp2	T	C	11: 116,079,788		probably null	Het
Xirp1	T	C	9: 120,017,454	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,319,702		probably null	Het
Zfp687	A	G	3: 95,011,456	I335T	probably damaging	Het
Zfpm1	A	G	8: 122,334,488	Y264C	probably damaging	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5024593	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01011:Atad2b	APN	12	4965984	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5017987	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01924:Atad2b	APN	12	5034093	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5018056	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	4974046	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4941972	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5018037	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	4974003	nonsense	probably null
IGL02896:Atad2b	APN	12	4958151	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5006715	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5024628	missense	probably benign	0.24
K3955:Atad2b	UTSW	12	4954536	splice site	probably benign
P0038:Atad2b	UTSW	12	4954536	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5024587	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5031795	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4942030	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	4952676	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4941973	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4945035	splice site	probably benign
R0617:Atad2b	UTSW	12	4937401	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	4965915	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5024591	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5006593	splice site	probably benign
R0973:Atad2b	UTSW	12	5031784	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	4974239	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4942018	nonsense	probably null
R1678:Atad2b	UTSW	12	4965899	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5034575	nonsense	probably null
R1826:Atad2b	UTSW	12	4974094	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	4990883	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4942067	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	4950595	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	4985710	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4940145	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	4954663	splice site	probably null
R4639:Atad2b	UTSW	12	5018053	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4944901	splice site	probably null
R4850:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5034513	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4937534	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	4965855	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4940098	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4917911	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5010351	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	4954593	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	4973970	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5018002	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	4957558	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	4952642	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	4990949	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5024668	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5017992	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5027105	nonsense	probably null
R7405:Atad2b	UTSW	12	4943232	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	4952660	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5010390	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5031726	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5027182	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	4974159	missense	possibly damaging	0.54
R8253:Atad2b	UTSW	12	4974160	missense	probably benign	0.02

Predicted Primers

Posted On

2013-05-29